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Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families

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Acknowledgements

This work was supported by the National Key Research and Development Program of China (2016YFC0905100 and 2016YFC1000504), the National Natural Science Foundation of China (81788101), the CAMS Innovation Fund for Medical Sciences (2016-I2M-1-002), the Natural Science Foundation of Beijing (7172167). We are grateful to the patients and their family members for their participation.

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  1. Contributed equally to this work

Authors and Affiliations

  1. McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China

    Xiaerbati Habulieti, Liwei Sun, Kexin Guo, Xueting Yang, Rongrong Wang & Xue Zhang

  2. The First Affiliated Hospital of XinJiang Medical University, Wulumuqi, 830001, China

    Xiaerbati Habulieti

  3. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100072, China

    Jiawei Liu & Donglai Ma

Authors
  1. Xiaerbati Habulieti
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  2. Liwei Sun
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  4. Kexin Guo
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  5. Xueting Yang
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  7. Donglai Ma
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Corresponding authors

Correspondence to Rongrong Wang or Donglai Ma.

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Habulieti, X., Sun, L., Liu, J. et al. Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families. Sci. China Life Sci. 64, 2206–2209 (2021). https://doi.org/10.1007/s11427-020-1922-3

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  • DOI: https://doi.org/10.1007/s11427-020-1922-3

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